What is Turner Syndrome?
This syndrome is also referred to as Mosaic Turner Syndrome and Ullrich-Turner Syndrome and is a genetic condition that affects the sexual development in females. Turner Syndrome was discovered in 1938 by Dr. Henry.
This syndrome affects approximately one in two thousand five hundred female births everywhere. Usually if a woman is carrying a female fetus with this syndrome the pregnancy does not survive. Most often there is a miscarriage and if the pregnancy is carried to full term, the baby is stillborn. If the baby is born alive they are going to require care their whole life because of the various conditions that they suffer from all their lives.
If the pregnancy goes to full term and the baby is born alive she will usually be small in both size and length. They could also have a wide neck and chest along with distended hands and feet. They may also have eyelids that sag and a jaw that is underdeveloped but not all infants show immediate symptoms of Turner syndrome when they are born.
Some of the symptoms that show up as the infant female grows can include:
- Having a delay in development and growth.
- Short stature of only about four foot eight inches. They may often have normal height for the first three years and then slow down.
- No growth spurt at puberty
- Having an absence of prepubescent changes such as developing breasts or having a menstrual flow without hormone treatment at puberty.
- Being unable to reach their development milestones of adolescent years.
- Learning difficulties especially with math but most can write, memorize, and read well.
- Having some communication problems
- Flat or apathy affect
- Shorter neck being enveloped with extra skin called a webbed neck.
- Puffy feet and hands along with short fingers and toes
- Low ears
- Low hairline
- Having skeletal abnormalities such as deformity of the spine known as scollosis which occurs in about ten percent of the female with this condition.
- Colored spots on their skin
- Hearing problems
- Irregular rotation of elbow and wrist joints
- Soft nails that turn upward at the ends when they become old.
Because they have a lack of estrogen in their bodies it could even lead to an abrupt end in their menstruation cycles and stop their sexual development. Many of the infants born with this syndrome suffer from various cardiac conditions such as the narrowing of their aorta which in turn could cause high blood pressure. They may also have abnormal kidneys. Those with Turner Syndrome are also at risk for having middle ear infections. Most of them also have infertility problems due to ovary development.
Many females with Turner Syndrome have various medical conditions such as blood vessel problems, thyroid disorder, osteoporosis, and Type 2 diabetes. They may even suffer from low esteem because of their difference from other females during puberty.
In order for a physician to determine if the fetus has turner syndrome it must be confirmed with special blood tests. At what point in life that it is diagnosed will depend on how severe the condition is. Usually the diagnosis is made during prenatal testing but it they may not be diagnosed until infancy or later when puberty does not occur or if they start to show several symptoms of the condition. The reason that the special blood test would be done during prenatal visits is that the there is an abnormal amniocentesis. It may even be suspected during an ultrasound. This blood test is called a karyote and looks at the chromosomes to see if there is only a single X chromosome instead of the normal two. They can also do karyotyping which is taking a picture of the chromosomes if the doctor suspects this condition.
Turner Syndrome Causes
The cause of a female having Turner Syndrome is the partial or complete absence of one of the two X chromosomes or if the chromosomes have been rearranged. Each parent is supposed to supply one of the X chromosomes to the fetus. If during the early stages of embryonic development a sex chromosome is lost it will result in a few of the cells growing and developing with only one instead of two X chromosomes. It can be referred to as chromosomal deficiency. One thing to note is that Turner Syndrome is not a hereditary disease. It is also not caused by health or environmental factors. There is no real answer as to how it happens that only one X chromosome is present but it is thought that it is random error during the formation of the sperm or eggs.
If Turner Syndrome is found during childhood or during adolescence they are usually put under the care of a pediatric endocrinologist. This doctor is one that specializes in childhood conditions of metabolism and hormones. They can also use growth hormone injections in some of the individuals who have this condition. If these injections are started early enough in childhood it could increase their height by a few inches when they reach adulthood.
Many of the problems associated with Turner Syndrome can be taken care of with hormone replacement therapy. One such therapy is called estrogen replacement therapy which is usually started about the time of normal puberty to help with breast development. This is usually around twelve years of age. Later the doctor can start progesterone and estrogen to help start their menstrual cycle in order to keep the womb healthy. Osteoporosis can also be prevented by estrogen therapy.
If the female was born with a narrowing of the aorta or a heart murmur they may require surgery to correct these problems. If they have high blood pressure they may need medication to keep it under control. These females may also need to be treated for diabetes or having an under active thyroid. Most females with Turner Syndrome are infertile but there are reproduction techniques that can be done to help her become pregnant. One such technique is by using donor eggs which are turned into embryos using the husband’s sperm so the woman who has Turner Syndrome can become pregnant and carry the baby.
It is very important that females with Turner Syndrome have regular health check-ups because treatment and early preventive care is important and will let them to live a healthy, normal life. Usually females with this condition reach fifty years of age but if complications that can be associated with this syndrome are not detected they can die at an early age. Most of the early deaths are due to heart and kidney problems. In addition to possibly being stillborn they can also be aborted spontaneously.
Turner Syndrome Pictures
Collection of Photos, Images and Pictures of Turner Syndrome…